Canonical Allele Identifier: CA459619953
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1388235267
gnomAD v4: 8-10612574-A-G
MyVariant Identifiers: chr8:g.10470084A>G (hg19) chr8:g.10612574A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612574A>G , CM000670.2:g.10612574A>G GRCh38
NC_000008.10:g.10470084A>G , CM000670.1:g.10470084A>G GRCh37
NC_000008.9:g.10507494A>G NCBI36
NG_028035.1:g.47534T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1524T>C MANE Select ENSP00000371923.3:p.Asp508=
ENST00000382483.3:c.1524T>C ENSP00000371923.3:p.Asp508=
NM_178857.5:c.1524T>C NP_849188.4:p.Asp508=
NM_178857.6:c.1524T>C MANE Select NP_849188.4:p.Asp508=
Search 100 bp 5'
Search 100 bp 3'